NM_212472.2(PRKAR1A):c.381T>C (p.Ala127=) AND Carney complex, type 1

Clinical significance:Likely benign (Last evaluated: Nov 26, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001084659.2

Allele description [Variation Report for NM_212472.2(PRKAR1A):c.381T>C (p.Ala127=)]

NM_212472.2(PRKAR1A):c.381T>C (p.Ala127=)

Gene:
PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.2
Genomic location:
Preferred name:
NM_212472.2(PRKAR1A):c.381T>C (p.Ala127=)
HGVS:
  • NC_000017.11:g.68523757T>C
  • NG_007093.3:g.115135T>C
  • NM_001276289.1:c.381T>C
  • NM_001276290.1:c.381T>C
  • NM_001278433.1:c.381T>C
  • NM_001369389.1:c.381T>C
  • NM_001369390.1:c.381T>C
  • NM_002734.4:c.381T>C
  • NM_212471.2:c.381T>C
  • NM_212472.2:c.381T>C
  • NP_001263218.1:p.Ala127=
  • NP_001263219.1:p.Ala127=
  • NP_001265362.1:p.Ala127=
  • NP_001356318.1:p.Ala127=
  • NP_001356319.1:p.Ala127=
  • NP_002725.1:p.Ala127=
  • NP_997636.1:p.Ala127=
  • NP_997637.1:p.Ala127=
  • LRG_514t1:c.381T>C
  • LRG_514t2:c.381T>C
  • LRG_514:g.115135T>C
  • LRG_514p1:p.Ala127=
  • LRG_514p2:p.Ala127=
  • NC_000017.10:g.66519898T>C
  • NM_002734.3:c.381T>C
Links:
dbSNP: rs372669687
NCBI 1000 Genomes Browser:
rs372669687
Molecular consequence:
  • NM_001276289.1:c.381T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276290.1:c.381T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278433.1:c.381T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369389.1:c.381T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369390.1:c.381T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002734.4:c.381T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212471.2:c.381T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212472.2:c.381T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Carney complex, type 1 (CNC1)
Synonyms:
CARNEY MYXOMA-ENDOCRINE COMPLEX
Identifiers:
MONDO: MONDO:0008057; MedGen: C2607929; Orphanet: 1359; OMIM: 160980

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000556794Invitaecriteria provided, single submitter
Likely benign
(Nov 26, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000556794.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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